Case Presentation: A 66-year-old female presented to the ED with generalized weakness, tremor, diplopia, and slurred speech. The patient’s medical history included TIA, hyperlipidemia, metabolic syndrome, anemia, BPPV, fibromyalgia, syringomyelia, DDD and depression. Notably, this patient was diagnosed with bilateral neuropathy two months prior and self-reportedly experienced gait abnormalities one month prior. Initial exam findings demonstrated abnormal finger-to-nose testing on the right, diminished RUE strength and slowed speech with stuttering. No resting tremor or changes in sensation of the hands and feet were noted. NIH stroke/scale scores were 1 and 0 in the ED and in the observational unit, respectively. Initial CBC, BMP, CT head, CTA head and neck and RUQ US were unremarkable. EEG demonstrated prominent left hemisphere slowing. The initial brain MRI demonstrated a less conspicuous signal alteration in the right occipital lobe, left basal ganglia and cingulate gyri favoring mild uncomplicated encephalitis, recent seizure over acute-subacute ischemic infarcts, CJD, or other toxic metabolic encephalopathy. A 5-day course of methylprednisolone was initiated for treatment of potential autoimmune etiology. Repeat MRI demonstrated worsening signals. Following additional unremarkable testing with lumbar puncture, serum autoimmune/paraneoplastic panel, and CSF IgG, suspicion for CJD was high. CSF movement disorder and prion markers were ordered, for which the family elected to go home to wait for results. CSF testing for movement disorders was negative. However, RT-QuIC was positive and total Tau protein was 6,422pg/mL with a >98% likelihood of prion disease.At a follow-up telemedicine visit, the patient was noted to have severe rapidly progressive dementia with global ataxia and titubation of the head, trunk and voice. The patient died approximately one month after the ED presentation due to suspected CJD.
Discussion: While there are limited reports of patients initially manifesting with symptoms resembling a stroke, this patient’s clinical course questions the current standards of care when CJD is on the differential. Classical MRI findings of CJD include hyperintense lesions in the corpus callosum, the caudate nucleus, the superior parietal lobe on DWI, T2, and fluid-attenuated inversion recovery (FLAIR) sequencing1. Patients frequently present with primary manifestations of sudden onset neuromotor symptoms, most commonly ataxia and myoclonus (encountered in approximately 90% of cases)2. In contrast, our patient exhibited stroke-like symptoms, notably a subtle facial droop accompanied by minor dysarthria and expressive aphasia. The initial MRI scans in this case exhibit an atypical and nonspecific presentation which, in turn, resulted in a diagnostic delay. Although MRI scans are considered the diagnostic gold standard while the patient is still alive3, this patient’s initial MRI demonstrated less conspicuous signal alterations, none of which are specific to CJD or provided a definitive diagnosis.
Conclusions: Fostering awareness regarding stroke-like and atypical initial manifestations of CJD can prompt early diagnosis and empower patients to make timely informed preparations for end-of-life-care.
